Results 61 to 70 of about 25,193 (188)
Therapeutic approach to ocular coloboma - a case report of a 37-year-old patient with high myopia and choroidal coloboma of the right eye [PDF]
Introduction: Coloboma is a congenital malformation caused by a defect of optic fissure closure. We report a rare case of choroidal coloboma and management of possible complications.
Sirek, Sebastian +2 more
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Case Reports in Ophthalmological Medicine, Volume 2025, Issue 1, 2025.Goldenhar syndrome (GS), also known as Franceschetti–GS, encompasses a spectrum of congenital anomalies affecting the eyes, ears, face, and vertebrae. This case report highlights a 2‐day‐old female patient diagnosed with GS presenting a rare manifestation of bilateral complete eyelid colobomas.
Rawan S. Utt +6 more
wiley +1 more source
Clinical &Experimental Ophthalmology, Volume 52, Issue 8, Page 861-869, November 2024.Abstract Background Paediatric vitreoretinal pathology is distinct from adult cases in both presentation and surgical planning. Here we aim to report the aetiology and epidemiology in children 0–18 years requiring vitreoretinal surgery at a major tertiary paediatric hospital in Queensland, Australia.
Amelia Bai +3 more
wiley +1 more source
, 2017 The article presents an interesting and fairly rare clinical case of congenital posterior segment anomaly of both eyes manifesting itself by coloboma of the optic nerve head in the right eye and choroidal coloboma in the left eye.
Aleksandr S. Kharakozov +5 more
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Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.Abstract UPF3B encodes the Regulator of nonsense transcripts 3B protein, a core‐member of the nonsense‐mediated mRNA decay pathway, protecting the cells from the potentially deleterious actions of transcripts with premature termination codons. Hemizygous variants in the UPF3B gene cause a spectrum of neuropsychiatric issues including intellectual ...
Ferruccio Romano +13 more
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 2005 As anomalias congênitas do disco óptico podem estar associadas a anormalidades vasculares intracranianas. Relatamos o caso de um paciente de 9 anos com anomalia do disco óptico tipo morning glory em um olho e coloboma do disco óptico e coróide ...
Ramon Coral Ghanem +3 more
doaj +1 more source
Screening of pediatric eye disease at home by using camera of mobile phone
Ендоваскулярна нейрорентгенохірургія, 2020 The simplest method of screening eye pathology in infant is red reflex examination. Present, absence or change of red reflex is key point in early detection of eye pathology.
Yu.V. Barinov, L.O. Lysytsia
doaj +1 more source
The Hippo signalling pathway and its impact on eye diseases
Journal of Cellular and Molecular Medicine, Volume 28, Issue 8, April 2024.Abstract The Hippo signalling pathway, an evolutionarily conserved kinase cascade, has been shown to be crucial for cell fate determination, homeostasis and tissue regeneration. Recent experimental and clinical studies have demonstrated that the Hippo signalling pathway is involved in the pathophysiology of ocular diseases.
Yuxiang Du
wiley +1 more source
Congenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations
Journal of Ophthalmology, Volume 2024, Issue 1, 2024.Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to ...
Alessia Guarnera +13 more
wiley +1 more source
Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
, 2008 We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
陳慕師;何子昌;張慶忠;蔡紫薰;侯平康 +1 more
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